Archive for the ‘Multiple Sclerosis’ Category

Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.

Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.

There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.

Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.

Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.

An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. It is less common closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 in 20,000 people are affected. For unknown reasons, most forms of multiple sclerosis affect women twice as often as men; however, women and men are equally affected by primary progressive MS.

Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking.

The HLA-DRB1 gene belongs to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations in several HLA genes have been associated with increased multiple sclerosis risk, but one particular variant of the HLA-DRB1 gene, called HLA-DRB1*15:01, is the most strongly linked genetic factor.

The IL7R gene provides instructions for making one piece of two different receptor proteins: the interleukin 7 (IL-7) receptor and the thymic stromal lymphopoietin (TSLP) receptor. Both receptors are embedded in the cell membrane of immune cells. These receptors stimulate signaling pathways that induce the growth and division (proliferation) and survival of immune cells. The genetic variation involved in multiple sclerosis leads to production of an IL-7 receptor that is not embedded in the cell membrane but is instead found inside the cell. It is unknown if this variation affects the TSLP receptor.

Because the HLA-DRB1 and IL-7R genes are involved in the immune system, changes in either might be related to the autoimmune response that damages the myelin sheath and nerve cells and leads to the signs and symptoms of multiple sclerosis. However, it is unclear exactly what role variations in either gene plays in development of the condition.

Read more about the HLA-DRB1 and IL7R genes.

See a list of genes associated with multiple sclerosis.

The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population.

These resources address the diagnosis or management of multiple sclerosis and may include treatment providers.

You might also find information on the diagnosis or management of multiple sclerosis in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

You may find the following resources about multiple sclerosis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

In a discovery that is likely to rewrite immunology text books, researchers at UC Davis have found that early exposure to inflammatory cytokines, such as interleukin 2, can "paralyze" CD4 T cells, immune components that help ...

Kessler Foundation's Lauren Strober, PhD, explores the association of secondary fatigue and sleep disturbances in multiple sclerosis (MS). "Fatigue in multiple sclerosis: a look at the role of poor sleep" was published in ...

(HealthDay)Children with multiple sclerosis (MS) who exercise have less disease activity than those who don't, researchers report.

Here's another reason to put the salt shaker down: New research in mice shows that diets high in sodium may be a novel risk factor in the development of multiple sclerosis (MS) by influencing immune cells that cause the disease. ...

Both the doctors who treat multiple sclerosis and the people who experience it agree that the disease is highly unpredictable.

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It takes a surprisingly small cluster of brain cells deep within the cerebellum to learn how to serve a tennis ball, or line up a hockey shot. Researchers at McGill University led by Kathleen Cullen from the Department of ...

Of all the things young children put in their mouths, dirt may provoke the most concern among parents fearful that eating it will give kids worms.

Israel's Teva Pharmaceutical Industries Ltd. said Monday it is purchasing Dublin-based Allergan PLC's generic pharmaceuticals business for $40.5 billion, in what Israeli analysts called the largest-ever acquisition by an ...

(HealthDay)Rates of ganglion cell + inner plexiform layer (GCIP) atrophy mirrors that of whole brain atrophy in multiple sclerosis (MS), as measured by optimal coherence tomography (OCT), according to a study published ...

The physical symptoms of weakness and fatigue from multiple sclerosis (MS) can rock a person's confidence and ability to engage in what he or she feels is important, from being a good parent and friend to taking up a hobby, ...

With genetic roots of many autoimmune diseases pinpointed, scientists are zeroing in on the variety of molecular mechanisms triggered by these harmful variants. A team led by Yale School of Medicine researchers has implicated ...

New research suggests people with multiple sclerosis (MS) may have double the risk of dying early compared to people without MS, with those younger than 59 at a three times higher risk. The study is published in the May 27, ...

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Multiple sclerosis (abbreviated to MS, known as disseminated sclerosis or encephalomyelitis disseminata) is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms. Disease onset usually occurs in young adults, and it is more common in women. It has a prevalence that ranges between 2 and 150 per 100,000. MS was first described in 1868 by Jean-Martin Charcot.

MS affects the ability of nerve cells in the brain and spinal cord to communicate with each other effectively. Nerve cells communicate by sending electrical signals called action potentials down long fibers called axons, which are contained within an insulating substance called myelin. In MS, the body's own immune system attacks and damages the myelin. When myelin is lost, the axons can no longer effectively conduct signals. The name multiple sclerosis refers to scars (sclerosesbetter known as plaques or lesions) particularly in the white matter of the brain and spinal cord, which is mainly composed of myelin. Although much is known about the mechanisms involved in the disease process, the cause remains unknown. Theories include genetics or infections. Different environmental risk factors have also been found.

Almost any neurological symptom can appear with the disease, and often progresses to physical and cognitive disability. MS takes several forms, with new symptoms occurring either in discrete attacks (relapsing forms) or slowly accumulating over time (progressive forms). Between attacks, symptoms may go away completely, but permanent neurological problems often occur, especially as the disease advances.

There is no known cure for multiple sclerosis. Treatments attempt to return function after an attack, prevent new attacks, and prevent disability. MS medications can have adverse effects or be poorly tolerated, and many patients pursue alternative treatments, despite the lack of supporting scientific study. The prognosis is difficult to predict; it depends on the subtype of the disease, the individual patient's disease characteristics, the initial symptoms and the degree of disability the person experiences as time advances. Life expectancy of people with MS is 5 to 10 years lower than that of the unaffected population.

This text uses material from Wikipedia licensed under CC BY-SA

Tracking mobile phone data is often associated with privacy issues, but these vast datasets could be the key to understanding how infectious diseases are spread seasonally, according to a study published in the Proceedings ...

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An international team of scientists headed by biologists at UC San Diego has discovered that an important class of stem cells known as human "induced pluripotent stem cells," or iPSCs, which are derived from an individual's ...

What Is Multiple Sclerosis? Multiple sclerosis is a disease of the central nervous system (brain and spinal cord) that usually first appears between the ages of 20 and 40, and affects women twice as often as men. Also known as MS, multiple sclerosis is the leading cause of disability among young adults.

An unpredictable disease of the central nervous system, multiple sclerosis can range from being relatively benign to somewhat disabling to devastating as communication between the brain and other parts of the body is disrupted.

Although multiple sclerosis was first diagnosed in 1849, the earliest known description of a person with possible MS dates back to fourteenth-century Holland.

There are four patterns of multiple sclerosis. The more common pattern is an episode of symptoms that lasts for days or weeks followed by a period of no symptoms for weeks or months. This type of multiple sclerosis is called relapsing-remitting MS.

A less common pattern of multiple sclerosis is a steady worsening of symptoms from the first sign of illness. This is called primary-progressive MS.

The two other main forms of multiple sclerosis include secondary-progressive and progressive-relapsing.

Multiple sclerosis is a progressive autoimmune disease and the most common neurological disease diagnosed in young adults. It is believed that multiple sclerosis occurs when the bodys own immune system attacks the central nervous system. Commonly called MS, the disease generally gets worse with time and can cause significant nerve damage.

The progression and severity of multiple sclerosis varies greatly among individuals. The severity of multiple sclerosis ranges from mild to severe and disabling, and it can result in muscle weakness, loss of balance, and difficulty walking.

In some cases, multiple sclerosis can lead to serious complications, such as choking and paralysis. Early diagnosis and medical care can help manage and control symptoms and minimize complications of multiple sclerosis.

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MS is a disease where patches of inflammation occur in parts of the brain and/or spinal cord. This can cause damage to parts of the brain and lead to various symptoms (described below).

Many thousands of nerve fibres transmit tiny electrical impulses (messages) between different parts of the brain and spinal cord. Each nerve fibre in the brain and spinal cord is surrounded by a protective sheath made from a substance called myelin. The myelin sheath acts like the insulation around an electrical wire, and is needed for the electrical impulses to travel correctly along the nerve fibre.

Nerves are made up from many nerve fibres. Nerves come out of the brain and spinal cord and take messages to and from muscles, the skin, body organs and tissues.

MS is thought to be an autoimmune disease. This means that cells of the immune system, which normally attack germs (bacteria, viruses, etc), attack part of the body. When the disease is active, parts of the immune system, mainly cells called T cells, attack the myelin sheath which surrounds the nerve fibres in the brain and spinal cord. This leads to small patches of inflammation.

Something may trigger the immune system to act in this way. One theory is that a virus, or another factor in the environment, triggers the immune system in some people with a certain genetic makeup.

The inflammation around the myelin sheath stops the affected nerve fibres from working properly, and symptoms develop. When the inflammation clears, the myelin sheath may heal and repair, and nerve fibres start to work again. However, the inflammation, or repeated bouts of inflammation, can leave a small scar (sclerosis) which can permanently damage nerve fibres. In a typical person with MS, many (multiple) small areas of scarring develop in the brain and spinal cord. These scars may also be called plaques.

Once the disease is triggered, it tends to follow one of the following four patterns.

Nearly 9 in 10 people with MS have the common relapsing-remitting form of the disease. A relapse is when an attack (episode) of symptoms occurs. During a relapse, symptoms develop (described below) and may last for days, but usually last for 2-6 weeks. They sometimes last for several months. Symptoms then ease or go away (remit). You are said to be in remission when symptoms have eased or gone away. Further relapses then occur from time to time.

The type and number of symptoms that occur during a relapse vary from person to person, depending on where myelin damage occurs. The frequency of relapses also varies. One or two relapses every two years is fairly typical. However, relapses can occur more or less often than this. When a relapse occurs, previous symptoms may return, or new ones may appear.

Stem Cell Treatment #5 for Multiple Sclerosishttp://msrelief.com (Just laugh at my hair) Dr. Balshi explains that stem cells will duplicate, replicate, and restore the damaged parts of the central nervous system for about four months....

The Ottawa Hospital and the University of Ottawa have received a $4.2 million grant to support aclinical trial for stem cell therapy targeted atmultiple sclerosis patients.

One Pointe-Claire man says he knows from personal experience that the treatmentmesenchymal stem cell therapy could give someone with MS a new chance at life.

Alexandre Normandin was diagnosed eight years ago, in his third year of medical school at McGill University.

He said what started out asa little numbness on his left temple, turned out to be rapidly progressing MS.

"The way it was going, it wouldn't be surprising, within months [or]years, to wind up in a wheelchair," he told .CBC'sDaybreakhost MikeFinnerty.

When he found out about an experimental bone marrow stem-cell transplant at the Ottawa General hospital in 2008,he didn't hesitate to sign up.

The treatment was risky Normandin had to go through 15 days of chemotherapy in order to completely wipe his immune system and eliminate themutation that caused his MS.

But it worked.

Years later,Normandin runshis own medical practice.

"The progression of the disease has been fully stopped I still have some fatigue, I still have some issues with balance, but in general compared with what the alternative would have been, I think it's a miracle cure," he said.

Jayne Morrow, who suffers from multiple sclerosis, with her husband David.

A MUM-OF-THREE who suffers from a debilitating neurological condition could soon be making a life-changing journey to Russia.

Jayne Morrow, 47, from Ilfracombe, was diagnosed with multiple sclerosis (MS) eight years ago and has been battling the worsening effects of the condition ever since.

For Jayne, who suffers from chronic fatigue and numbness in her hand and torso, this has meant giving up her job as a personal trainer and forfeiting her driving licence.

In a bid to combat the condition, Jayne has now secured a place at a Russian clinic, where she will undergo a stem cell treatment known as HSCT.

Although the treatment is available on the NHS, it is currently only offered to those in the advanced stages of MS.

"Time isn't on my side," Jayne said. "I need it quite quickly everyone who suffers from MS does because it's a progressive illness.

"I don't want to be a burden to anybody. I can see in time being a complete write off."

More than 100,000 people in the UK are thought to suffer from MS. Although it is not fatal, for those living with the condition it can cause the loss of vision, extreme muscle spasms and loss of balance.

For Jayne, who lives in Ilfracombe, dealing with the consequences of the condition has proved difficult.

The Caldwell resident said the goal is to erase any memory of the disease from her body.

However, even with insurance coverage, the procedure will cost Christoforou roughly $20,000 between traveling to Chicago, where the transplant is done, and the other costs associated with removing and reinserting her stem cells, as well as fertility treatments.

Multiple sclerosis is an autoimmune disease that disrupts the brains ability to communicate with the body. The hematopoietic stem cell transplant will remove Christoforous stem cells from her bone marrow and then she will undergo chemotherapy before her own stem cells are injected back into her system with hopefully no memory of the MS, she explained.

Christoforous first symptoms left her unable to walk up the stairs, bumping into walls, losing her memory and confused. There were days where she would forget how to get home or how she arrived at work, she said.

She had a particularly bad episode in July of 2014 that left her unable to speak, walk, see and even feed herself. She spent a week in the hospital followed by two weeks at Kessler Institute for Rehabilitation, she said. She then spent another eight weeks in outpatient therapy in order to recover.

It was a long road, but with lots of hard work and praying, you would never know that had happened to me by looking at me, she said.

After this episode, she was perusing Facebook for MS groups when one of the suggestions was a group for patients of Dr. Richard K. Burts Stem Cell Study at Northwestern University in Chicago.

Christoforou was diagnosed with MS at age 22 in 2005. It was her senior year of college and for awhile, she thought the symptoms were stress accruing from a busy year, but it unfortunately ended up being much worse than that, she said.

At the time of her diagnosis, she joined AOL chat rooms, which she said were popular at that time, about the disease where she spoke to someone named Rob from Maryland who had the HSCT procedure during a more advanced stage of MS.

Kick starting a process that might repair the damage done in cerebral palsy and multiple sclerosis could begin with disabling a driver that helps block regeneration, said Baylor College of Medicine researchers in a report that appears in the journal Neuron.

When an infant is deprived of oxygen during or shortly after birth, the brain's white matter -- home to the myelin-making oligodendrocytes -- is damaged. Without myelin, the messages between nerve cells are interrupted or slowed. Similarly, the myelin sheath that covers nerves degenerates in multiple sclerosis, again interrupting the message that travels from neuron to neuron.

Cerebral palsy is increasing in recent years, with approximately 12,000 cases diagnosed annually. As more infants' lives are saved at earlier stages in the development, the risk of damage from lack of oxygen to the white matter of the brain increases. That kind of injury is the cause of cerebral palsy.

"Yet, those lesions in the white matter are populated by oligodendrocyte progenitors sitting in suspended animation," said Dr. Benjamin Deneen, associate professor in the Stem Cells and Regenerative Medicine Center at Baylor and the Center for Cell and Gene Therapy at Baylor, Texas Children's Hospital and Houston Methodist Hospital and corresponding author of the report. "The cells that are supposed to be making myelin are not doing it. If you could coax those cells to differentiate, you might have something."

Cells that differentiate are mature and can carry out their prescribed function.

Previously, collaborators at the University of California San Francisco had shown that Wnt signaling pathways are present at high levels in oligodendrocyte precursors, and Wnt blocks the ability of cells to differentiate.

Yet how did the Wnt signaling pathway get involved?

Dr. Hyun Kyoung Lee, a postdoctoral fellow in Deneen's laboratory at Baylor, began to uncover the answer, using chicks and their development as an experimental model.

"We knew a protein called Daam2 is important for Wnt signaling and receptor clustering of the Wnt complex," said Lee. "How does it do that?"

Using a variety of techniques including a hypoxia chamber that caused damage to the white matter, she and her colleagues showed that Daam2 interacts with another protein called PIP5K(inase) to allow the clustering that promotes Wnt signaling and prevents differentiation of the oligodendrocyte precursor.

IT IS expensive and controversial and the medical community is still divided about its success, but Jenni Saunders is living proof Russia's controversial stem cell treatment program can work.

The Kawana Island resident spent 30 days in Moscow in December receiving stem cell treatment she hoped would help provide some relief from the multiple sclerosis that has been slowly crippling her body for 30 years.

It has been 10 weeks since Ms Saunders' return and she is ecstatic with the results.

The 60-year-old can literally jump for joy.

It's been "years" since Ms Saunders was able to lift both feet off the ground, so the small leap in the air is a giant leap for her.

"I have seen several improvements in the last nine to 10 weeks," she said.

"The pins and needles in my hands and feet are virtually gone and I can stand up with my eyes closed.

"This might not sound like a lot to many people, but to me it is significant."

She says she is the oldest Australian to have attempted the $60,000 treatment, excluding the cost of flights.

The stem cell treatment is not approved for MS sufferers in Australia and people like Ms Saunders have to raise money to pay for the trip, even though it is available in other parts of the world.

Newswise MINNEAPOLIS Stem cell transplants may be more effective than the drug mitoxantrone for people with severe cases of multiple sclerosis (MS), according to a new study published in the February 11, 2015, online issue of Neurology, the medical journal of the American Academy of Neurology.

The study involved 21 people whose disability due to MS had increased during the previous year even though they were taking conventional medications (also known as first-line treatments). The participants, who were an average age of 36, were at an average disability level where a cane or crutch was needed to walk.

In MS, the bodys immune system attacks its own central nervous system. In this phase II study, all of the participants received medications to suppress immune system activity. Then 12 of the participants received the MS drug mitoxantrone, which reduces immune system activity. For the other nine participants, stem cells were harvested from their bone marrow. After the immune system was suppressed, the stem cells were reintroduced through a vein. Over time, the cells migrate to the bone marrow and produce new cells that become immune cells. The participants were followed for up to four years.

This process appears to reset the immune system, said study author Giovanni Mancardi, MD, of the University of Genova in Italy. With these results, we can speculate that stem cell treatment may profoundly affect the course of the disease.

Intense immunosupression followed by stem cell treatment reduced disease activity significantly more than the mitoxantrone treatment. Those who received the stem cell transplants had 80 percent fewer new areas of brain damage called T2 lesions than those who received mitoxantrone, with an average of 2.5 new T2 lesions for those receiving stem cells compared to eight new T2 lesions for those receiving mitoxantrone.

For another type of lesion associated with MS, called gadolinium-enhancing lesions, none of the people who received the stem cell treatment had a new lesion during the study, while 56 percent of those taking mitoxantrone had at least one new lesion.

Mancardi noted that the serious side effects that occurred with the stem cell treatment were expected and resolved without permanent consequences.

More research is needed with larger numbers of patients who are randomized to receive either the stem cell transplant or an approved therapy, but its very exciting to see that this treatment may be so superior to a current treatment for people with severe MS that is not responding well to standard treatments, Mancardi said.

Structure of a typical neuron, showing the protective myelin sheath that is attacked in multiple sclerosis

In what could herald a major advance in treating multiple sclerosis, brain damage was significantly reduced in patients getting stem cell transplants, compared to a control group. Results of the small Phase 2 trial -- the first of its kind -- are preliminary but promising, according to experts not involved with the trial.

The four-year study compared the results of intense immune suppression followed by transplants of the patient's own blood-forming, or hematopoietic stem cells to those of a control group given immune suppression alone. Dr. Giovanni L. Mancardi of the University of Genova in Italy led the 21-patient study, released Wednesday in the journal Neurology.

Patients in the treatment group had 80 percent fewer new damaged brain areas called T2 lesions, compared to those who got the immune-suppressing chemotherapy drug mitoxantrone but no stem cells. The Phase 3 trial will look for signs of effectiveness in reducing disability. The goal is to "reboot" the immune system, which is maladjusted in MS and attacks the nervous system, impairing movement and balance.

Patients were randomly assigned to either the treatment or control group, something that hasn't been done in previous trials of stem cell therapy for MS, according to an accompanying editorial in Neurology.

"It's a very exciting advance," said Goldstein, who heads UCSD's stem cell program. "It's a small study, but it sure looks like it was well controlled and carefully done."

Goldstein and Corey-Bloom, and the study authors themselves, cautioned that because the trial was so small, results must be regarded as preliminary. No improvement in disability was found in the trial, although there were so few patients that even a strong benefit might not have been noticed.

The Phase 3 trial now underway, which will include more patients, has been designed to find that benefit, if it exists. It can be found at clinicaltrials.gov under the identifier NCT00273364.

In the Phase 2 trial, nine patients received immune suppression followed by stem cell transplants. Immune suppression alone was administered to a control group of 12 patients, for a total of 21 patients. The patients receiving stem cells were given their own, or autologous, hematopoietic stem cells, reducing the risk of rejection.

Scientists are hesitant to call it a cure, but they have succeeded in significantly reducing -- and in some cases, reversing -- disability caused by the crippling disorder multiple sclerosis. The therapy involves using the patients own stem cells in a single treatment.

The stem cells are collected from the patients blood and they are used to reset the immune system, so the body's fighter cells no longer mistake the patients own nervous system tissue for an invader. Those attacks cause disability and autoimmune diseases like multiple sclerosis.

MS is a degenerative disease. Ten years after being diagnosed, half of all MS patients are unable to work, and after 25 years with the disease, half lose the ability to walk.

Richard Burt, chief of the Division of Immunotherapy at Northwestern University in Evanston, Illinois, led a study of 150 MS patients, most with the mildest form of the disease called relapsing-remitting MS, in which they received the stem-cell therapy.

He said their disability seemed to reverse itself or disappear.

This is a one-time treatment and then you are done. And so we hope patients never need to be treated again, said Burt.

About half of the patients tested two years after the study showed significant improvement in their movement and cognitive function. Of the three dozen participants tested after four years, 23 had continued improvement of their symptoms, and 80 percent were free of relapses or flare-ups.

Ten percent of patients required another treatment after five years. Some of the participants, who had a more serious form of MS, did not improve.

MS disease progression and severity are measured by the number of lesions in the brain seen by high-tech imaging. Most of the patients who received the stem cells had fewer brain lesions.

Treatment for multiple sclerosis is expensive, typically close to $50,000 or more per year.

Washington, DC - infoZine - Three-year outcomes from an ongoing clinical trial suggest that high-dose immunosuppressive therapy followed by transplantation of a person's own blood-forming stem cells may induce sustained remission in some people with relapsing-remitting multiple sclerosis (RRMS). RRMS is the most common form of MS, a progressive autoimmune disease in which the immune system attacks the brain and spinal cord.

Three years after the treatment, called high-dose immunosuppressive therapy and autologous hematopoietic cell transplant or HDIT/HCT, nearly 80 percent of trial participants had survived without experiencing an increase in disability, a relapse of MS symptoms or new brain lesions. Investigators observed few serious early complications or unexpected side effects, although many participants experienced expected side effects of high-dose immunosuppression, including infections and gastrointestinal problems.

Scientists estimate that MS affects more than 2.3 million people worldwide. Symptoms can vary widely and may include disturbances in speech, vision and movement. Most people with MS are diagnosed with RRMS, which is characterized by periods of relapse or flare up of symptoms followed by periods of recovery or remission. Over years, the disease can worsen and shift to a more progressive form.

In the study, researchers tested the effectiveness of HDIT/HCT in 25 volunteers with RRMS who had relapsed and experienced worsened neurological disability while taking standard medications. Doctors collected blood-forming stem cells from participants and then gave them high-dose chemotherapy to destroy their immune systems. The doctors returned the stem cells to the participants to rebuild and reset their immune systems.

"Notably, participants did not receive any MS drugs after transplant, yet most remained in remission after three years," said Daniel Rotrosen, M.D., director of NIAID's Division of Allergy, Immunology and Transplantation. "In contrast, other studies have shown that the best alternative MS treatments induce much shorter remissions and require long-term use of immunosuppressive drugs that can cause serious side effects."

The study researchers plan to follow participants for a total of five years, recording all side effects associated with the treatment. Final results from this and similar studies promise to help inform the design of larger trials to further evaluate HDIT/HCT in people with MS.

The trial is funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and conducted by the NIAID-funded Immune Tolerance Network (ITN).

The three-year findings are published in the Dec. 29, 2014, online issue of JAMA Neurology.

Three years after a small number of patients with multiple sclerosis (MS) were treated with high-dose immunosuppressive therapy (HDIT) and then transplanted with their own hematopoietic stem cells, most of the patients sustained remission of active relapsing-remitting MS (RRMS) and had improvements in neurological function, according to a study published online by JAMA Neurology.

MS is a degenerative disease and most patients with RRMS who received disease-modifying therapies experience breakthrough disease. Autologous (using a patient's own cells) hematopoietic cell transplant (HCT) has been studied in MS with the goal of removing disease-causing immune cells and resetting the immune system, according to the study background.

The Hematopoietic Cell Transplantation for Relapsing-Remitting Multiple Sclerosis (HALT-MS) study examines the effectiveness of early intervention with HDIT/HCT for patients with RRMS and breakthrough disease. The article by Richard A. Nash, M.D., of the Colorado Blood Cancer Institute at Presbyterian/St. Luke's Medical Center, Denver, and coauthors reports on the safety, efficacy and sustainability of MS disease stabilization though three years after the procedures. Patients were evaluated through five years.

Study results indicate that of the 24 patients who received HDIT/HCT, the overall rate of event-free survival was 78.4 percent at three years, which was defined as survival without death or disease from a loss of neurologic function, clinical relapse or new lesions observed on imaging. Progression-free survival and clinical relapse-free survival were 90.9 percent and 86.3 percent, respectively, at three years. The authors note that adverse events were consistent with the expected toxic effect of HDIT/HCT and that no acute treatment-related neurologic adverse events were seen. Improvements in neurologic disability, quality-of-life and functional scores also were noted.

"In the present study, HDIT/HCT induced remission of MS disease activity up to three years in most participants. It may therefore represent a potential therapeutic option for patients with MS in whom conventional immunotherapy fails, as well as for other severe immune-mediated diseases of the central nervous system. Most early toxic effects were hematologic and gastrointestinal and were expected and reversible. Longer follow-up is needed to determine the durability of the response," the authors conclude.

In a related editorial, M. Mateo Paz Soldn, M.D., Ph.D., of the University of Utah, Salt Lake City, and Brian G. Weinshenker, M.D., of the Mayo Clinic, Rochester, Minn., write: "This study and another phase 2 single-arm study leave little doubt that high-dose immunotherapy is able to substantially suppress inflammatory disease activity in patients with MS who have active disease in the short term. There is some evidence for long-term suppression of MS. Lessons have been learned about how treatment-related morbidity and mortality may be reduced. However, deaths have occurred, even in small studies, and aggressive regimens have resulted in lymphomas associated with Epstein-Barr virus."

"Nash et al show evidence of prolonged depletion of memory CD4+ cells, depletion of CD4+-dominant T-cell receptor clones and evidence of 'immune reset'; however, clinical or radiologic evidence of relapse trumps immunologic evidence of immune reset, and this study raises concern that those end points have not been adequately achieved. The jury is still out regarding the appropriateness and indication of HCT for MS," the authors conclude.

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The above story is based on materials provided by The JAMA Network Journals. Note: Materials may be edited for content and length.

HOPE: Andrew Hunt, pictured with his wife Marie and children Jesse and Samuel faces limited time with his family unless a new form of stem cell treatment can reverse his deterioration from multiple sclerosis.

Andrew Hunt is betting his life on a high-risk, brutal and unproven medical treatment on the other side of the world, in a bid to beat the disease slowly killing him.

The Cambridge-based anaesthetic technician was diagnosed with multiple sclerosis eight years ago.

The news he had the disease, which attacks the nervous system in people's bodies, came just two weeks after Hunt asked his girlfriend Marie for her hand in marriage. They have since tied the knot.

Since then, she has helplessly watched her husband daily endure the characteristic symptoms of the disease: Fatigue, leg spasms, loss of balance, muscle weakness and tightening, and severe heat intolerance.

As is common for those who suffer from multiple sclerosis, Hunt is getting progressively worse. In mid-September, the disease forced him to resign from his job as an anaesthetic technician at Southern Cross Hospital.

His wife and sons - two-year-old Jesse and four-month-old Samuel - have been left with little hope of a stable future

But come early January, Hunt will leave his family for two months to become the first New Zealander to travel to Chicago for a treatment known as Hematopoietic Stem Cell Transplantation (HSCT).

The treatment is being trialled internationally for multiple sclerosis and is not yet approved in New Zealand. Although it has been labelled a high-risk treatment that is deemed unproven the Hunt family say it's a risk they are willing to take.

Stem Cell Treatment | Multiple Sclerosis | http://www.stemrx.inMultiple sclerosis (MS), also known as disseminated sclerosis or encephalomyelitis disseminata, is an inflammatory disease in which the insulating covers of ...